Varaico: Literature-Extracted Genetic Variants

Gene:TMEM150B
Variant:p.L199F

TMEM150B

18 papers

RefSeq Summary

This gene encodes a protein that belongs to the DRAM (damage-regulated autophagy modulator) family of membrane-spanning proteins. Alternate splicing results in multiple transcript variants. [provided ...

Pfam Domains

Frag1aa 4–206UCSCFrag1/DRAM/Sfk1/Cwh43P N-terminal domain

Gene Aliases

HGNC Name

transmembrane protein 150B

HGNC Previous Symbol

TMEM224

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001282011.2
p.L199F
c.597A>T
Surrounding Variants
2 papers
NM_001282011.2
p.L199F
c.597A>C
1 paper
NM_001282011.2
p.V201I
c.601G>A
1 paper
NM_001282011.2
p.G197C
c.589G>T
1 paper
NM_001282011.2
p.P215L
c.644C>T
1 paper
NM_001282011.2
p.P222insFs
c.665dupC
1 paper
NM_001282011.2
p.P222fs
c.664_665fs
1 paper
NM_001282011.2
p.P223S
c.667C>T
1 paper
NM_001282011.2
p.A174S
c.520G>T
1 paper
NM_001282011.2
p.S160S
c.480C>T
1 paper
NM_001282011.2
p.G152E
c.455G>A
1 paper
NM_001282011.2
p.G152R
c.454G>C
1 paper
NM_001282011.2
p.G152R
c.454G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."